摘要:

Two infertile males with sex chromosomal abnormalities and mosaic karyotype, 45,X/ 46,X,dic(Yq) and 45,X/46,X,ring(Y), had considerably changed physical findings, including tooth sizes and craniofacial dimensions. Spermatogenesis was preserved with abnormal meiotic chromosomal behaviour. Mosaic karyotype and structurally changed Y chromosome in both cases had an influence on physical parameters. Testes were normally developed and spermatogenesis was preserved but depressed in later stages.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03513.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Fresh blood samples were collected from 103 North Karelians who had in 1981–84 participated in dietary intervention studies and analysis of the Xbal restriction fragment length polymorphism (RFLP) of apolipoprotein B (apoB) was carried out. Reanalysis of the original plasma lipid and apolipoprotein data indicated that while baseline concentrations did not differ significantly between genotypes, the response to a low‐fat, low‐cholesterol diet was influenced by apoB Xbal genotype: reductions in total and low density lipoprotein (LDL) cholesterol, apoB and high density lipoprotein (HDL) cholesterol were greater in subjects homo‐ or heterozygous for the presence of the Xbal cutting site (X1X2 or X2X2 genotype, designated X2+) as compared to those lacking the cutting site (X1X1 genotype, designated X2—). The corresponding average reductions induced by dietary intervention in X2+ and X2— subjects were: for total cholesterol 1.30 and 0.99 mmol/1 (p=0.036), for LDL cholesterol 1.04 and 0.78 mmol/1 (p=0.049), for apoB 18.3 and 8.1 mg/100 ml (p=0.012) and for HDL cholesterol 0.26 and 0.17 mmol/1

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03514.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Two families with the congenital X‐linked infantile form of myotubular myopathy have been investigated by linkage analysis using markers from the X‐chromosome. Linkage was found at the locus Xq28 (with DXS52). The analysis gave a peak lod score of 2.41 at the recombination fraction zero. Free recombinations (θ=0.50) were seen using the markers DXS84, DXS14 and DXS146 from the p arm of the X‐chromosome. Since the disorder is very rare, it is important to add cumulative linkage data from the few families that do

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03515.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

In this report we present precise data on the clinical, intellectual and behavioural findings in 7 young fra(X) positive girls. The two most common and most important findings are an overgrowth syndrome present from birth on and common behavioural features like severe attentional problems and extreme shyness and anxiety. These symptoms seem to constitute the major criteria for fra(X) screening in prepubertal girls. The findings in previous studies are compared with the present observations.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03516.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio‐oto‐renal and the branchio‐oculo‐facial syndrome. Both syndromes may represent variant expressions of the same autosomal domina

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03517.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

In growth‐retarded girls, shortness may be the only clinical sign of Turner syndrome. Therefore recommendations have been published that a chromosomal analysis should be carried out in every girl showing growth retardation. The present study was carried out to examine whether the head circumference of small girls can serve as a criterion and hence limit the need for expensive chromosomal analysis. The head circumferences of 45 girls with Turner syndrome were compared with those of 41 growth‐retarded girls. It could be shown that the heads of the patients with Turner syndrome had a normal circumference, whereas the heads of the control group were significantly smaller. In view of this result, the risk of overlooking Turner syndrome in diagnosing growth retardation without a chromosomal analysis could be estimated to be 1:9000. The conclusion is drawn that a chromosomal analysis is not necessary in girls whose growth retardation is combined with a small head circumference and who do not show other malformati

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03518.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

A female child of healthy, unrelated parents presented at 12 months of age with a history of moderately severe developmental delay, macrocephaly, dysmorphic facies, hypotonia, hepato‐splenomegaly, mild generalized dysostosis multiplex, mucopolysacchariduria (dermatan and heparan sulfates), and Alder‐Reilly bodies in peripheral blood leukocytes. Iduronate sulfatase activity in plasma was markedly depressed: 0.11 units/ml/h (normal, 1.75 ±0.56, N = 6). Analyses of arylsulfatases A, B, and C, heparan N‐sulfatase, α‐mannosidase, β‐mannosidase, β‐glucuronidase, β‐hexosaminidase, β‐galactosidase, and α‐fucosidase activities in plasma, leukocytes, and/or cultured skin fibroblasts were all normal. Urinary sulfatide excretion was also within normal limits. Karyotypes of peripheral blood leukocytes and cultured skin fibroblasts were normal. Serum iduronate sulfatase activities in the parents were in the normal range (father, 1.63 units/ml/h; mother, 1.25 units/ml/h). The results of analyses of restriction fragment length polymorphisms (RFLP) of DNA from cultured skin fibroblasts with the use of probes for loci extending from Xpter to Xq28 showed X chromosome heterozygosity and confirmed the paternal origin of one of the X chromosomes. Studies on sulfur‐35 uptake in mixed fibroblast cultures showed cross‐correction of [35S]‐glycosaminoglycan accumulation between cells from the patient and normal cells or cells from a patient with Hurler disease; however, there was no cross‐correction between cells from the patient and those from boys affected with classical Hunter disease. This represents only the second confirmed case of Hunter disease reported

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03519.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

The present report concerns the clinical and cytogenetic findings in a liveborn girl with trisomy for the long arm of chromosome 20. She was the unbalanced product of a maternal t(18;20)(q23.2;q13.1) translocation. Our case is compared to the 3 previous reports of trisomy 20q associated with telomeric translocation. Adenosine deaminase dosage falls in the normal range and confirms the exclusion of the ADA locus from the region extending distally to 20q13.1.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03520.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03521.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03522.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY